First Case from Molecular Autopsy Study Presented at Genomics Conference

Researchers identify mutation likely tied to family's history of sudden death

First case from Molecular Autopsy study presented at Scripps Genomic Conference, 2016 in La Jolla San Diego.

Dardie Robinson discussed the mystery surrounding her son’s death at the Future of Genomic Medicine conference.

Researchers with the Scripps Translational Science Institute presented the first results made public from their ongoing Molecular Autopsy Study during the recent Future of Genomic Medicine conference in La Jolla.

Presenters included Dardie Robinson, whose 29-year-old son became a participant in the study after he died of sudden unexplained heart failure. Researchers believe a gene mutation they found in the son’s DNA not only explains the fatal electrical failure that stopped his heart, but also likely explains three generations of sudden heart failure deaths in Robinson’s family.

The study, which was launched in 2014 in partnership with the San Diego County Medical Examiner, uses DNA sequencing to search for genetic causes of sudden unexplained death in people 45 years old or younger.

A number of media outlets recently interviewed Robinson and STSI Director Eric Topol, MD, about the study results. Dr. Topol also is a cardiologist with Scripps Clinic in La Jolla.

Watch the PBS Newshour report: How Genetic Sequencing Can Unlock Secret DNA Mutations – And Save Lives

Read the Medscape article (requires a free subscription): Mom Pushes for Molecular Autopsy After Son’s Sudden Death

View the KPBS coverage: San Diego Scientists Solve Mystery Behind a Son’s Sudden Death

Read the San Diego Union-Tribune article: Molecular Autopsy Finds Killer Mutation

Listen to KPBS “Midday Edition” interviews: San Diego Scientists Transform Family Tragedy Into Legacy

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Keith Darce
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